1. Cutaneous clues for diagnosing X‐chromosomal disorders. (14th August 2013) Authors: Vreeburg, M.; Sallevelt, S.C.E.H.; Stegmann, A.P.A.; van Geel, M.; Detisch, Y.J.H.A.; Schrander‐Stumpel, C.T.R.M.; van Steensel, M.A.M.; Marcus‐Soekarman, D. Journal: Clinical genetics Issue: Volume 85:Number 4(2014:Apr.) Page Start: 328 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review. Issue 5 (14th April 2018) Authors: van den Akker, W.M.R.; Brummelman, I.; Martis, L.M.; Timmermans, R.N.; Pfundt, R.; Kleefstra, T.; Willemsen, M.H.; Gerkes, E.H.; Herkert, J.C.; van Essen, A.J.; Rump, P.; Vansenne, F.; Terhal, P.A.; van Haelst, M.M.; Cristian, I.; Turner, C.E.; Cho, M.T.; Begtrup, A.; Willaert, R.; Fassi, E. Journal: Clinical genetics Issue: Volume 93:Issue 5(2018) Page Start: 1000 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. De novo variants in KLF7 are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms. Issue 5 (25th January 2018) Authors: Powis, Z.; Petrik, I.; Cohen, J.S.; Escolar, D.; Burton, J.; van Ravenswaaij‐Arts, C.M.A.; Sival, D.A.; Stegmann, A.P.A.; Kleefstra, T.; Pfundt, R.; Chikarmane, R.; Begtrup, A.; Huether, R.; Tang, S.; Shinde, D.N. Journal: Clinical genetics Issue: Volume 93:Issue 5(2018) Page Start: 1030 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗